Search Ontology:
Human Disease

galactose epimerase deficiency

Term ID
DOID:0111458
Synonyms
  • epimerase deficiency galactosemia
  • galactosemia III
  • galactosemia type 3
  • GALE deficiency
  • GALE-D
  • UDP-galactose-4-epimerase deficiency
  • uridine diphosphate galactose-4-epimerase deficiency
Definition
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11. (2)
References
Ontology
Human Disease   ( DOID:0111458 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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